1p21.1-p13.3CNV Type: Deletion
Largest CNV size: 4069703 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton deletion within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
4069703
1
0
1
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
8234856
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005223
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
106074587
110144290
4069704
GRCh38
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0975
16 yrs.
F
ASD
Developmental milestones: language delay, motor delay. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: positive for epileptic seizures/epilepsy, myoclonus. Congenital and developmental phenotypes: neonatal asphyxia. Family history: negative.
Intellectual disability (IQ < 70)
103175204
111410059
8234856
GRCh38
Deletion
N/A
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005223
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MTATP6P14,MTCO1P14,PRMT6,MIR7852,ST13P21,PRPF38B,SPATA42,RANP5,TMEM167B,SCARNA2,C1orf194,ATXN7L2,AMIGO1,RNU6V,MIR197,RPL7P8,NDUFA5P10,UBL4B,VAV3-AS1,NBPF4,SLC25A24P1,NBPF6,FAM102B,FNDC7,AKNAD1,CLCC1,WDR47,TAF13,SARS,CELSR2,PSRC1,MYBPHL,PSMA5,SYPL2,CYB561D1,GPR61,GNAT2,AMPD2,GSTM4,GSTM5,GSTM3,EPS8L3,CSF1,AHCYL1,STRIP1,ALX3,LINC01661,NTNG1,VAV3,SLC25A24,NBPF5P,SLC25A24P2,HENMT1,STXBP3,GPSM2,KIAA1324,SORT1,GNAI3,GSTM2,GSTM1,LINC01768,LINC01397
kushima_18_ASD_discovery_cases-caseASD0975
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
RN7SKP285,ACTG1P4,AMY2A,AMYP1,AMY1C,FTLP17,CDK4P1,SEPT2P1,MTATP6P14,MTCO1P14,PRMT6,MIR7852,ST13P21,PRPF38B,SPATA42,RANP5,TMEM167B,SCARNA2,C1orf194,ATXN7L2,AMIGO1,RNU6V,MIR197,RPL7P8,NDUFA5P10,UBL4B,LINC02586,LAMTOR5,PROK1,CYMP,CYMP-AS1,KCNA10,NRBF2P3,CCNT2P1,RNA5SP54,CHIAP1,PIFO,HIGD1AP12,PGCP1,AMY2B,AMY1A,AMY1B,LINC01676,LINC01677,VAV3-AS1,NBPF4,SLC25A24P1,NBPF6,FAM102B,FNDC7,AKNAD1,CLCC1,WDR47,TAF13,SARS,CELSR2,PSRC1,MYBPHL,PSMA5,SYPL2,CYB561D1,GPR61,GNAT2,AMPD2,GSTM4,GSTM5,GSTM3,EPS8L3,CSF1,AHCYL1,STRIP1,ALX3,SLC6A17,RBM15-AS1,RBM15,SLC16A4,KCNA3,OR11I1P,LRIF1,DRAM2,DENND2D,CHI3L2,CHIA,CHIAP3,RNPC3,LINC01661,NTNG1,VAV3,SLC25A24,NBPF5P,SLC25A24P2,HENMT1,STXBP3,GPSM2,KIAA1324,SORT1,GNAI3,GSTM2,GSTM1,LINC01768,KCNC4,LAMTOR5-AS1,KCNA2,CD53,CHIAP2,LINC01397,CEPT1
Controls
No Control Data Available
No Animal Model Data Available